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DOI | 10.1038/ncomms15312 |
ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma | |
Rashid, Mamunur1; van der Horst, Michiel2; Mentzel, Thomas3; Butera, Francesca4; Ferreira, Ingrid1; Pance, Alena1; Rutten, Arno3; Luzar, Bostjan5; Marusic, Zlatko6; Aubain, Nicolas de Saint7; Ko, Jennifer S.8; Billings, Steven D.8; Chen, Sofia1; Daoud, Marie Abi9,10,11; Hewinson, James1; Louzada, Sandra1; Harms, Paul W.12,13; Cerretelli, Guia14; Robles-Espinoza, Carla Daniela1,15; Patel, Rajiv M.12,13; van der Weyden, Louise1; Bakal, Chris4; Hornick, Jason L.16; Arends, Mark J.14; Brenn, Thomas9,10,11,14; Adams, David J.1 | |
2019-05-17 | |
发表期刊 | NATURE COMMUNICATIONS |
ISSN | 2041-1723 |
出版年 | 2019 |
卷号 | 10 |
文章类型 | Article |
语种 | 英语 |
国家 | England; Netherlands; Germany; Slovenia; Croatia; Belgium; USA; Canada; Scotland; Mexico |
英文摘要 | Spiradenoma and cylindroma are distinctive skin adnexal tumors with sweat gland differentiation and potential for malignant transformation and aggressive behaviour. We present the genomic analysis of 75 samples from 57 representative patients including 15 cylindromas, 17 spiradenomas, 2 cylindroma-spiradenoma hybrid tumors, and 24 low- and high-grade spiradenocarcinoma cases, together with morphologically benign precursor regions of these cancers. We reveal somatic or germline alterations of the CYLD gene in 15/15 cylindromas and 5/17 spiradenomas, yet only 2/24 spiradenocarcinomas. Notably, we find a recurrent missense mutation in the kinase domain of the ALPK1 gene in spiradenomas and spiradenocarcinomas, which is mutually exclusive from mutation of CYLD and can activate the NF-kappa B pathway in reporter assays. In addition, we show that high-grade spiradenocarcinomas carry loss-of-function TP53 mutations, while cylindromas may have disruptive mutations in DNMT3A. Thus, we reveal the genomic landscape of adnexal tumors and therapeutic targets. |
领域 | 资源环境 |
收录类别 | SCI-E |
WOS记录号 | WOS:000468174600013 |
WOS关键词 | BROOKE-SPIEGLER ; FAMILIAL CYLINDROMATOSIS ; PREEXISTING SPIRADENOMA ; MALIGNANT NEOPLASMS ; DNA METHYLATION ; CANCER ; GENES ; MYB ; SPIRADENOCYLINDROMA ; IDENTIFICATION |
WOS类目 | Multidisciplinary Sciences |
WOS研究方向 | Science & Technology - Other Topics |
URL | 查看原文 |
引用统计 | |
文献类型 | 期刊论文 |
条目标识符 | http://119.78.100.173/C666/handle/2XK7JSWQ/203290 |
专题 | 资源环境科学 |
作者单位 | 1.Wellcome Trust Sanger Inst, Expt Canc Genet, Cambridge CB10 1SA, England; 2.Maasstad Hosp, Dept Pathol, Maasstadweg 21, NL-3079 DZ Rotterdam, Netherlands; 3.Dermatopathol Friedrichshafen, Siemensstr 6-1, D-88048 Friedrichshafen, Germany; 4.Inst Canc Res, Div Canc Biol, Chester Beatty Labs, Dynam Cell Syst Lab, London SW3 6JB, England; 5.Univ Ljubljana, Med Fac, Inst Pathol, Korytkova 2, Ljubljana 1000, Slovenia; 6.Univ Hosp Ctr Zagreb, Kispaticeva 12, Zagreb 10000, Croatia; 7.Inst Jules Bordet, 121-125 Blvd Waterloo, B-1000 Brussels, Belgium; 8.Cleveland Clin, Dept Pathol, Cleveland, OH 44195 USA; 9.Univ Calgary, Cumming Sch Med, Dept Pathol & Lab Med, Calgary, AB T2L 2K8, Canada; 10.Univ Calgary, Cumming Sch Med, Dept Med, Calgary, AB T2L 2K8, Canada; 11.Univ Calgary, Cumming Sch Med, Arnie Charbonneau Canc Inst, Calgary, AB T2L 2K8, Canada; 12.Univ Michigan, Med Sch, Dept Pathol, 2800 Plymouth Rd, Ann Arbor, MI 48109 USA; 13.Univ Michigan, Med Sch, Dept Dermatol, 2800 Plymouth Rd, Ann Arbor, MI 48109 USA; 14.Univ Edinburgh, Canc Res UK Edinburgh Ctr, Inst Genet & Mol Med, Div Pathol, Crewe Rd, Edinburgh EH4 2XR, Midlothian, Scotland; 15.Univ Nacl Autonoma Mexico, Lab Int Invest Genoma Humano, Campus Juriquilla,Blvd Juriquilla 3001, Santiago De Queretaro 76230, Mexico; 16.Harvard Med Sch, Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA |
推荐引用方式 GB/T 7714 | Rashid, Mamunur,van der Horst, Michiel,Mentzel, Thomas,et al. ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma[J]. NATURE COMMUNICATIONS,2019,10. |
APA | Rashid, Mamunur.,van der Horst, Michiel.,Mentzel, Thomas.,Butera, Francesca.,Ferreira, Ingrid.,...&Adams, David J..(2019).ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.NATURE COMMUNICATIONS,10. |
MLA | Rashid, Mamunur,et al."ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma".NATURE COMMUNICATIONS 10(2019). |
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